CBS
Associated conditions:
- Homocystinuria
CBS makes an enzyme that uses vitamin B6 to break down homocysteine, an amino acid that is toxic when it accumulates. Genetic changes in both copies of this gene are associated with an autosomal recessive condition called classic homocystinuria, affecting the eyes, skeleton, brain and blood vessels. Knowing your genetic status enables early treatment with B6, diet and supplements that can prevent much of the harm.
Conditions linked to CBS
Homocystinuria
Homocystinuria affects how the body processes an amino acid, letting homocysteine build up. Untreated it can affect the eyes, skeleton, blood clotting and development, but diet, vitamins and other treatment control it, which is why it is screened for in newborns.
